Results 141 to 150 of about 1,639,589 (408)

Autosomal-dominant immune dysregulation syndrome in humans with CTLA4 mutations

Nature Network Boston, 2014
The protein cytotoxic T lymphocyte antigen-4 (CTLA-4) is an essential negative regulator of immune responses, and its loss causes fatal autoimmunity in mice. We studied a large family in which five individuals presented with a complex, autosomal dominant
D. Schubert, C. Bode, R. Kenefeck, T. Hou, J. Wing, A. Kennedy, A. Bulashevska, B. Petersen, A. Schäffer, B. Grüning, S. Unger, N. Frede, U. Baumann, T. Witte, R. Schmidt, G. Dueckers, T. Niehues, S. Seneviratne, M. Kanariou, C. Speckmann, S. Ehl, A. Rensing-Ehl, K. Warnatz, M. Rakhmanov, R. Thimme, P. Hasselblatt, F. Emmerich, T. Cathomen, R. Backofen, P. Fisch, M. Seidl, A. May, A. Schmitt-Graeff, S. Ikemizu, U. Salzer, A. Franke, S. Sakaguchi, Lucy S K Walker, D. Sansom, Bodo Grimbacher   +39 more
semanticscholar   +1 more source

Proteome-wide prediction of mode of inheritance and molecular mechanism underlying genetic diseases using structural interactomics [PDF]

arXiv
Genetic diseases can be classified according to their modes of inheritance and their underlying molecular mechanisms. Autosomal dominant disorders often result from DNA variants that cause loss-of-function, gain-of-function, or dominant-negative effects, while autosomal recessive diseases are primarily linked to loss-of-function variants. In this study,
arxiv  

Ein autosomal-dominantes Strukturmerkmal der menschlichen Iris [PDF]

, 1958
von P. J. Waardenburg
openalex   +1 more source

Autosomal dominant Parkinson’s disease [PDF]

Journal of Neurology, 1998
Multiple factors have been hypothesized over the years to be contributory and or causative for Parkinson's disease (PD). Hereditary factors, although originally discounted, have recently emerged in the focus of PD research. The study of a large Italian family with PD using a genome scan approach led to the mapping of a PD susceptibility gene to the ...
openaire   +3 more sources

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Autosomal Dominant Polycystic Kidney Disease and Pericardial Effusion

Oman Medical Journal, 2018
The autosomal dominant polycystic kidney disease (ADPKD) accounts for one out of 400–1000 live births, being a hereditary disorder with cystic and noncystic manifestations as well as extrarenal involvement. The pericardial effusion (PE) in the context of
Guillermo Alberto Perez Fernandez, Montaser Y. Ismail   +1 more
doaj   +1 more source

RNA Binding Density on X-chromosome Differing from that on 22 Autosomes in Human [PDF]

arXiv, 2003
To test whether X-chromosome has unique genomic characteristics, X-chromosome and 22 autosomes were compared for RNA binding density. Nucleotide sequences on the chromosomes were divided into 50kb per segment that was recoded as a set of frequency values of 7-nucleotide (7nt) strings using all possible 7nt strings (47=16384). 120 genes highly expressed
arxiv  

Selective gamma-A-globulin deficiency, with dominant autosomal inheritance in a Swiss family. [PDF]

, 1968
Fabian Stöcker, P. Ammann, Ezequiel A. Rossi   +2 more
openalex   +1 more source

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis, Beatriz Carvalho Nunes, Thainá Vilella, Rafaela Catelan Martins Pereira, Rui Fernando Pilotto, Lucimar Retto da Silva de Avó, Maria Isabel Melaragno, Carla Maria Ramos Germano, Débora Gusmão Melo   +8 more
wiley   +1 more source

Penetrance rate estimation in autosomal dominant conditions

Genetics and Molecular Biology, 2012
Accurate estimates of the penetrance rate of autosomal dominant conditions are important, among other issues, for optimizing recurrence risks in genetic counseling. The present work on penetrance rate estimation from pedigree data considers the following
Paulo A. Otto, Andréa R.V.R. Horimoto
doaj